SciELO - Scientific Electronic Library Online

vol.135 issue2Pseudotumoral adenomyomatosis of the gallbladder diagnosed by ultrasound: Report of one caseExcess respiratory diseases in children and elderly people in a community of Santiago with high particulate air pollution author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Revista médica de Chile

Print version ISSN 0034-9887


ARTEAGA LL, Antonio et al. Molecular diagnosis and combined lipid lowering therapy of heterozygous familial hypercholesterolemia: Report of one case. Rev. méd. Chile [online]. 2007, vol.135, n.2, pp.216-220. ISSN 0034-9887.

Heterozygous familial hypercholesterolemia affects one every 400 individuals, is caused by mutations in the LDL receptor gene and is associated with premature coronary artery disease. Nowadays, LDL cholesterol can be efficiently reduced with the new therapies to reduce blood lipids. We report a female patient who consulted in 1975, when she was 46 years old, for severe hypercholesterolemia. In 2003, a sample of leukocyte DNA was obtained and the uncommon 1705 + 1G >A mutation of the LDL receptor gene was detected. No mutations in the apolipoprotein B gene were found. The patient was treated successfully with simvastatin 80 mg/day and ezetimibe 10 mg/day and LDL cholesterol levels were reduced below 200 mg/dl

Keywords : Ezetimibe; Hypercholesterolemia, familial combined; LDL receptor related proteins; Simvastatin.

        · text in Spanish     · Spanish ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License